P64S (p.Pro64Ser) variant of GRIN2A (Q12879)
P64S (p.Pro64Ser) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P64S (p.Pro64Ser) variant details
- p.Pro64Ser
- rs994256744
- ClinGen CA394715548
- ClinVar RCV002006576
- TOPMed rs994256744
- Likely benign
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.27
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Likely benign (Landau-Kleffner syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)